The Pathology of Rare Diseases

Host Kelly Swails interviews Dr. Brad Brimhall and genetic counselor Megan Maxwell from the University of Texas Health Science Center San Antonio to discuss challenges with and strategies for the diagnosis of rare diseases. Their discussion covers topics like the advantages of proactively using genetic testing to identify gene markers at the outset of care, the possibilities of artificial intelligence in identifying markers of rare diseases, and the role of pathologists in a multi-disciplinary care team - as well as the need for adequate communication and a holistic approach within that care team. Collectively, our guests describe how these insights can be used to shorten a patient's "diagnostic odyssey."